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  1. 2017

  2. Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

    Lahrouchi, N., Lodder, E. M., Mansouri, M., Tadros, R., Zniber, L., Adadi, N., Clur, S-A. B., van Spaendonck-Zwarts, K. Y., Postma, A. V., Sefiani, A., Ratbi, I. & Bezzina, C. R., 2017, In: European journal of human genetics. 25, 6, p. 783-787

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

    Jansweijer, J. A., Nieuwhof, K., Russo, F., Hoorntje, E. T., Jongbloed, J. D. H., Lekanne Deprez, R. H., Postma, A. V., Bronk, M., van Rijsingen, I. A. W., de Haij, S., Biagini, E., van Haelst, P. L., van Wijngaarden, J., van den Berg, M. P., Wilde, A. A. M., Mannens, M. M. A. M., de Boer, R. A., van Spaendonck-Zwarts, K. Y., van Tintelen, J. P. & Pinto, Y. M., 2017, In: European journal of heart failure. 19, 4, p. 512-521

    Research output: Contribution to journal › Article › Academic › peer-review

  4. 2016

  5. A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

    Noël, E. S., Momenah, T. S., Al-Dagriri, K., Al-Suwaid, A., Al-Shahrani, S., Jiang, H., Willekers, S., Oostveen, Y. Y., Chocron, S., Postma, A. V., Bhuiyan, Z. A. & Bakkers, J., 2016, In: Human mutation. 37, 2, p. 194-200

    Research output: Contribution to journal › Article › Academic › peer-review

  6. Editorial Commentary: Looking beyond the heart in adult congenital heart disease

    Bouma, B. J. & Postma, A. V., 2016, In: Trends in cardiovascular medicine. 26, 7, p. 637-638

    Research output: Contribution to journal › Editorial › Academic › peer-review

  7. Genetics of congenital heart disease: the contribution of the noncoding regulatory genome

    Postma, A. V., Bezzina, C. R. & Christoffels, V. M., 2016, In: Journal of human genetics. 61, 1, p. 13-19

    Research output: Contribution to journal › Review article › Academic › peer-review

  8. 2015

  9. Genetics of congenital heart disease: Beyond half-measures

    Barnett, P. & Postma, A. V., 2015, In: Trends in cardiovascular medicine. 25, 4, p. 302-304

    Research output: Contribution to journal › Editorial › Academic › peer-review

  10. 2014

  11. A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects

    Mohan, R. A., van Engelen, K., Stefanovic, S., Barnett, P., Ilgun, A., Baars, M. J. H., Bouma, B. J., Mulder, B. J. M., Christoffels, V. M. & Postma, A. V., 2014, In: American journal of medical genetics. Part A. 164AA, 11, p. 2732-2738

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study

    van Engelen, K., Bartelings, M. M., Gittenberger-de Groot, A. C., Baars, M. J. H., Postma, A. V., Bijlsma, E. K., Mulder, B. J. M. & Jongbloed, M. R. M., 2014, In: Fetal diagnosis and therapy. 36, 1, p. 59-68

    Research output: Contribution to journal › Article › Academic › peer-review

  13. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

    Milano, A., Vermeer, A. M. C., Lodder, E. M., Barc, J., Verkerk, A. O., Postma, A. V., van der Bilt, I. A. C., Baars, M. J. H., van Haelst, P. L., Caliskan, K., Hoedemaekers, Y. M., Le Scouarnec, S., Redon, R., Pinto, Y. M., Christiaans, I., Wilde, A. A. & Bezzina, C. R., 2014, In: Journal of the American College of Cardiology. 64, 8, p. 745-756

    Research output: Contribution to journal › Article › Academic › peer-review

  14. Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

    Postma, A. V., Alders, M., Sylva, M., Bilardo, C. M., Pajkrt, E., van Rijn, R. R., Schulte-Merker, S., Bulk, S., Stefanovic, S., Ilgun, A., Barnett, P., Mannens, M. M. A. M., Moorman, A. F. M., Oostra, R. J. & van Maarle, M. C., 2014, In: Journal of medical genetics. 51, 2, p. 90-97

    Research output: Contribution to journal › Article › Academic › peer-review

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